Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R
I Clinica Dermatologica, University of Milan, Italy.
J Med Genet. 1990 Apr;27(4):244-8. doi: 10.1136/jmg.27.4.244.
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level, while ultrasound showed marked stomach dilatation. Light microscopy of pyloric tissue obtained after termination showed the pyloric lumen to be replaced by loose connective tissue with no inflammatory reaction. Immunofluorescence studies on the skin specimens with the monoclonal antibody GB3, known to be absent in 'lethal' junctional epidermolysis bullosa skin, disclosed a marked positivity suggesting that the junctional epidermolysis bullosa in this case may be of the 'non-lethal' type.
对一对有风险的夫妇进行了与幽门闭锁相关的交界性大疱性表皮松解症的产前诊断。他们之前的两个孩子尽管接受了幽门异常手术，但仍在出生后的头几个月死于同一种疾病。对妊娠18周时获取的胎儿皮肤活检组织进行超微结构研究，结果显示在透明层水平存在真皮-表皮分离，而超声检查显示胃部明显扩张。终止妊娠后获取的幽门组织的光镜检查显示，幽门管腔被疏松结缔组织取代，无炎症反应。用已知在“致死性”交界性大疱性表皮松解症皮肤中不存在的单克隆抗体GB3对皮肤标本进行免疫荧光研究，结果显示明显阳性，提示该病例中的交界性大疱性表皮松解症可能为“非致死性”类型。
